• 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TGIF1 (HGNC:11776) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
TGFB induced factor homeobox 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
HPE4, TGIF
Alias symbols
No aliases found
%HI
30.39(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.01(Read more about gnomAD pLI score)
LOEUF
0.91(Read more about gnomAD LOEUF score)
Cytoband
18p11.31
Genomic Coordinates
GRCh37/hg19: chr18:3412007-3459976 NCBI Ensembl UCSC
GRCh38/hg38: chr18:3412009-3459978 NCBI Ensembl UCSC
MANE Select Transcript
NM_003244.4 ENST00000343820.10 (Read more about MANE Select)
Function
Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adu... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-13645
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
05/10/2012

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 16962354
    El-Jaick et al. (2007) sequenced TGIF1 in 435 individuals with HPE and detected 4 mutations in TGIF1, including a de novo nonsense mutation. The authors also recapitulate the functional studies by Gripp et al. (2000).
  • PUBMED: 12522553
    Aguilella et al. (2003) sequenced TGIF1 in 127 HPE individuals and found 2 mutations, including 1 nonsense mutation. The nonsense mutation was inherited from a father with hypotelorism and cleft lip, microsigns of HPE, but no ID.
  • PUBMED: 22125506
    Keaton et al. report seven individuals with mutations or deletions (large or focal) involving TGIF1 and also summarize data from other publications. Two frameshift LOF mutations (p.Phe86Serfs*13, p.Arg260Glyfs*58) and one "focal gene deletion" found in this study alone.
HI Evidence Comments:
PMID:10835638: Gripp et al. (2000) sequenced TGIF1 in 268 individuals with HPE and found 4 heterozygous missense mutations. One of these mutations (S28C) was also seen in the father and grandfather of the proband, both of whom had ocular hypotelorism, a microsign of HPE, suggesting this mutation segregates with the phenotype. A de novo P36R mutation was described and functional studies of the mutant protein indicated decreased binding to the TGIF1 target site and loss of transcriptional regulatory activity in multiple assays. The other mutations were not as well characterized. PMID: Mutations in TGIF1 display incomplete penetrance and variable expressivity.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No Identified Literature.

Genomic View

Select assembly: (NC_000018.9) (NC_000018.10)